{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827569201",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1427,
          "referenceAllele": "F",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NP_001337678.1:p.Phe1427Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388647223",
          "hgvs": "NM_001350749.2:c.4281C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388647226",
          "hgvs": "NM_001350749.2:c.4281C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388647244",
          "hgvs": "NM_001350749.2:c.4279T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625826"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=672266[alleleid]",
        "alleleId": 672266,
        "preferredName": "NM_052867.4(NALCN):c.4281C>A (p.Phe1427Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/684702",
        "RCV": [
          "RCV000845219"
        ],
        "variationId": 684702
      }
    ]
  },
  "type": "amino-acid"
}